DisGeNET - a database of gene-disease associations

List of associated variants

JOUBERT SYNDROME 17, C3553264

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs777686211	CPLANE1	0.851	0.200	5	37226776	frameshift variant	A/-;AA	delins		1.8E-04	5
rs749523755	CPLANE1	0.882	0.080	5	37157810	stop gained	A/T	snv	2.4E-05	7.0E-06	4
rs775263897	CPLANE1	0.882	0.080	5	37148217	frameshift variant	T/-;TT	delins	4.0E-06; 8.0E-06		4
rs1187142382	CPLANE1	0.925	0.080	5	37238887	frameshift variant	TT/-	del			2
rs1228082731	CPLANE1	0.925	0.080	5	37201690	frameshift variant	AG/-	delins		7.0E-06	2
rs1321423759	CPLANE1	0.925	0.080	5	37244373	splice donor variant	A/T	snv	1.3E-05		2
rs1345413118	CPLANE1	0.925	0.080	5	37125255	stop gained	T/A;C	snv			2
rs1381740657	CPLANE1	0.925	0.080	5	37169324	stop gained	G/A	snv	4.0E-06	1.4E-05	2
rs139675596	CPLANE1	0.925	0.080	5	37165595	stop gained	G/A	snv	5.7E-05		2
rs141153181	CPLANE1	0.925	0.080	5	37198775	missense variant	G/A;T	snv	1.6E-05; 8.0E-06		2
rs1414913269	CPLANE1	0.925	0.080	5	37243012	splice donor variant	C/G	snv	7.0E-06		2
rs1482303814	CPLANE1	1.000		5	37125344	stop gained	C/T	snv		7.0E-06	2
rs149170427	CPLANE1	0.925	0.080	5	37198797	missense variant	G/A	snv	1.6E-05	2.1E-05	2
rs1554064102	CPLANE1	0.925	0.080	5	37148216	frameshift variant	-/C	ins			2
rs1561376123	CPLANE1	0.925	0.080	5	37139371	splice acceptor variant	C/G	snv			2
rs1561458987	CPLANE1	0.925	0.080	5	37164272	splice donor variant	C/T	snv			2
rs1561584225	CPLANE1	0.925	0.080	5	37201691	frameshift variant	G/-	del			2
rs1561655920	CPLANE1	0.925	0.080	5	37224277	frameshift variant	-/T	delins			2
rs367543062	CPLANE1	0.925	0.080	5	37167046	splice donor variant	C/T	snv	1.2E-05		2
rs374144275	CPLANE1	0.925	0.080	5	37120306	stop gained	G/A	snv	3.1E-05	1.9E-04	2
rs375009168	CPLANE1	0.925	0.080	5	37201718	stop gained	G/A;T	snv	8.0E-06		2
rs606231259	CPLANE1	0.925	0.080	5	37244452	frameshift variant	T/-	del		7.0E-05	2
rs730882217	CPLANE1	0.925		5	37153962	frameshift variant	TC/-	del			2
rs755097302	CPLANE1	0.925	0.080	5	37227669	stop gained	G/A;T	snv	3.2E-05; 6.4E-06		2
rs756856188	CPLANE1	0.925	0.080	5	37244521	missense variant	C/T	snv	1.2E-04	1.4E-04	2